Clinical Genetics Resources

Clinical Resources

Genotype to Phenotype1

  1. 11 Questions to Always Ask a Variant↩︎

  2. Recommendations for clinical interpretation of variants found in non-coding regions of the genome↩︎

  3. Six lessons for variant interpretation↩︎

  4. An expanded phenotype centric benchmark of variant prioritization tools↩︎

  5. A comparison on predicting functional impact of genomic variants↩︎

  6. Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria↩︎

  7. Computational prediction of human deep intronic variation↩︎

  8. Application Of The ACMG/AMP Framework To Capture Evidence Relevant To Predicted And Observed Impact On Splicing: Recommendations From The ClinGen SVI Splicing Subgroup↩︎

  9. Benchmarking splice variant prediction algorithms using massively parallel splicing assays↩︎

 

Questions? Contributions?

bmuchmor@med.umich.edu